R55H (p.Arg55His) variant of KRT16 (Keratin, type I cytoskeletal 16)
R55H (p.Arg55His) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R55H (p.Arg55His) variant details
- p.Arg55His
- TOPMed rs1445424962
- gnomAD rs1445424962
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.47
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available